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Richards-Rundle syndrome

Known as: Ataxia-deafness-retardation syndrome with ketoaciduria, Familial ataxia-hypogonadism syndrome, RRNS 
 
National Institutes of Health

Related topics

Related topics

19 relations
Aggressive behaviorArrest of spermatogenesisAutosomal recessive inheritanceCerebellar Ataxia
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Broader (3)

Amino Acid Metabolism, Inborn ErrorsAtaxiaIntellectual Disability

Papers overview

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Highly Cited
2015
Highly Cited
2015
World Alzheimer report 2014: Dementia and risk reduction
Prevalence and incidence are closely linked, prevalence being the product of incidence and duration of the disease episode… Expand
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Highly Cited
2015
Highly Cited
2015
How does biomass distribution change with size and differ among species? An analysis for 1200 plant species from five continents
We compiled a global database for leaf, stem and root biomass representing c. 11 000 records for c. 1200 herbaceous and woody… Expand
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Highly Cited
2009
Highly Cited
2009
Real-time queue length estimation for congested signalized intersections
How to estimate queue length in real-time at signalized intersection is a long-standing problem. The problem gets even more… Expand
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Highly Cited
2007
Highly Cited
2007
The Psychological World of the Gay Teenager:Social Change, Narrative, and “Normality”
This paper examines the application of concepts of normal adolescence pioneered by Offer and colleagues to the study of gay and… Expand
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Highly Cited
2006
Highly Cited
2006
Ultrafast cooling of photoexcited electrons in gold nanoparticle-thiolated DNA conjugates involves the dissociation of the gold-thiol bond.
Using UV-visible extinction spectroscopy and femtosecond pump-probe transient absorption spectroscopy, we have studied the effect… Expand
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Highly Cited
2005
Highly Cited
2005
Thermal history-dependent expression of the hsp70 gene in purple sea urchins: Biogeographic patterns and the effect of temperature acclimation
Thermal variation associated with large spatial scales is thought to significantly affect the physiology of organisms in marine… Expand
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Review
2003
Review
2003
Understanding sensitivity and specificity with the right side of the brain.
Can you explain why a test with 95% sensitivity might identify only 1% of affected people in the general population? The visual… Expand
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Highly Cited
2003
Highly Cited
2003
Read Me First for a User's Guide to Qualitative Research Janice M Morse Read Me First for a User's Guide to Qualitative Research and Lyn Richards Sage 262 £23 (paperback) 0761918414 0761918414.
 
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Highly Cited
2000
Highly Cited
2000
Another Look at Tagalog Subjects
There has been a fair amount of controversy over the right way of thinking about alternations like that shown in (1) (Tagalog… Expand
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Highly Cited
1990
Highly Cited
1990
TGF-β1 inhibition of c-myc transcription and growth in keratinocytes is abrogated by viral transforming proteins with pRB binding domains
TGF-beta 1 is demonstrated to inhibit skin keratinocyte proliferation when added during the G1 phase of the cell cycle. Human… Expand
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